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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLRA1
Single nucleotide variant
(intron variant)
Hyperekplexia 1
GUncertain significance
GLRA1
(V225fs +1 more)
Duplication
(frameshift variant)
Hyperekplexia 1
GLikely pathogenic
GLRA1
(S50fs)
Deletion
(frameshift variant +1 more)
Hyperekplexia 1
GLikely pathogenic
GLRA1
(N5S)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 1
GUncertain significance
GLRA1
(I417N +2 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GUncertain significance
GLRA1
(P64L)
Single nucleotide variant
(missense variant +1 more)
Hereditary hyperekplexia
+1 more
GUncertain significance
GLRA1
(R163W +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GPathogenic/Likely pathogenic
GLRA1
(Y142* +1 more)
Single nucleotide variant
(nonsense)
Hyperekplexia 1
GPathogenic
GLRA1
(S116P +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GUncertain significance
GPHN
(V59I)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Deletion
(splice acceptor variant)
Hyperekplexia 1
GLikely pathogenic
GLRA1
(R8*)
Single nucleotide variant
(nonsense +1 more)
Hereditary hyperekplexia
+2 more
GConflicting classifications of pathogenicity
GLRA1
(T107M +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+2 more
GPathogenic/Likely pathogenic
GLRA1
Single nucleotide variant
(intron variant +1 more)
Hyperekplexia 1
GLikely pathogenic
GLRA1
(M36V)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 1
GUncertain significance
GLRA1
Single nucleotide variant
(intron variant)
Hereditary hyperekplexia
+1 more
GLikely benign
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+1 more
GBenign/Likely benign
GLRA1
Single nucleotide variant
(intron variant)
Hyperekplexia 1
+2 more
GConflicting classifications of pathogenicity
GLRA1
Single nucleotide variant
(synonymous variant)
Hyperekplexia 1
GLikely benign
GLRA1
Single nucleotide variant
(5 prime UTR variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+2 more
GConflicting classifications of pathogenicity
GLRA1
Single nucleotide variant
(splice acceptor variant)
Hyperekplexia 1
GLikely pathogenic
GLRA1
(F17L)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 1
+1 more
GUncertain significance
GLRA1
(P402R +2 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+1 more
GUncertain significance
GLRA1
(C69Y)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 1
GLikely pathogenic
GLRA1
Single nucleotide variant
(splice donor variant)
Hyperekplexia 1
GLikely pathogenic
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+1 more
GBenign/Likely benign
GLRA1
(H52fs +1 more)
Deletion
(frameshift variant)
Hyperekplexia 1
GLikely pathogenic
GLRA1, LOC123575602
Duplication
Hyperekplexia 1
+1 more
GUncertain significance
GLRA1
Single nucleotide variant
(splice donor variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Deletion
Hyperekplexia 1
+1 more
GPathogenic
GLRA1
(R150P +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GUncertain significance
GPHN
(R276W)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
+1 more
GUncertain significance
GLRA1
(M432I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GPHN
(V43I)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+1 more
GUncertain significance
GLRA1
(D424N +2 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GLikely pathogenic
GLRA1
(M432T +2 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+2 more
GUncertain significance
GLRA1
(R442H +2 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+2 more
GUncertain significance
GLRA1
Single nucleotide variant
(splice donor variant)
Hyperekplexia 1
GPathogenic
GLRA1
Single nucleotide variant
(splice acceptor variant)
Hyperekplexia 1
GPathogenic
GPHN
(N267S)
Single nucleotide variant
(missense variant +1 more)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
+5 more
GBenign/Likely benign
GPHN
Single nucleotide variant
(synonymous variant)
Hyperekplexia 1
+2 more
GBenign/Likely benign
GLRA1
(V204M +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GUncertain significance
GLRA1
(F17S)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 1
+2 more
GConflicting classifications of pathogenicity
GLRA1
(R337Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
Hyperekplexia 1
GPathogenic
Hyperekplexia 1
GPathogenic
Hyperekplexia 1
GPathogenic
GLRA1
Single nucleotide variant
(5 prime UTR variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Single nucleotide variant
(5 prime UTR variant)
Hyperekplexia 1
+1 more
GBenign
GLRA1
Single nucleotide variant
(5 prime UTR variant)
Hyperekplexia 1
GLikely benign
GLRA1
Single nucleotide variant
(5 prime UTR variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Single nucleotide variant
(5 prime UTR variant)
Hyperekplexia 1
GUncertain significance
GLRA1
(R8P)
Single nucleotide variant
(missense variant +1 more)
Hereditary hyperekplexia
+1 more
GBenign/Likely benign
GLRA1
(A32T)
Single nucleotide variant
(missense variant +1 more)
Hereditary hyperekplexia
+1 more
GConflicting classifications of pathogenicity
GLRA1
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 1
+2 more
GBenign/Likely benign
GLRA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary hyperekplexia
+1 more
GLikely benign
GLRA1
Single nucleotide variant
(intron variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+2 more
GBenign/Likely benign
GLRA1
(R150Q +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+2 more
GConflicting classifications of pathogenicity
GLRA1
Single nucleotide variant
(synonymous variant)
Hyperekplexia 1
+1 more
GBenign/Likely benign
GLRA1
Single nucleotide variant
(intron variant)
Hyperekplexia 1
+3 more
GBenign
GLRA1
Single nucleotide variant
(intron variant)
Hyperekplexia 1
+1 more
GConflicting classifications of pathogenicity
GLRA1
(R241Q +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+1 more
GBenign
GLRA1
Single nucleotide variant
(synonymous variant)
Hyperekplexia 1
+2 more
GBenign
GLRA1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+2 more
GBenign/Likely benign
GLRA1
(R349Q +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+3 more
GBenign/Likely benign
GLRA1
(P394L +2 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+3 more
GBenign
GLRA1
(R405Q +2 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
+1 more
GBenign/Likely benign
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+2 more
GBenign
GLRA1
(D445Y +2 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GUncertain significance
GLRA1
Single nucleotide variant
(synonymous variant)
Hereditary hyperekplexia
+1 more
GBenign/Likely benign
GLRA1
(R93W +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GLikely pathogenic
GLRA1
(W198S +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GUncertain significance
GLRA1, LOC123575602
Deletion
Hyperekplexia 1
GPathogenic
GLRA1
Deletion
(nonsense)
Hereditary hyperekplexia
GPathogenic
GLRA1
(Y307S +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(S298T +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(W267C +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(R246Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
GPathogenic
GLRA1
(R100H +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
GLikely pathogenic
GLRA1
(G378S +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
GLRA1
(S295N +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(S324* +1 more)
Single nucleotide variant
(nonsense)
Hereditary hyperekplexia
+1 more
GPathogenic
GLRA1
Deletion
Hyperekplexia 1
GPathogenic
GLRA1
(S259R +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(V288M +1 more)
Single nucleotide variant
(missense variant)
GLRA1-related disorder
GUncertain significance
GLRA1
(Y230* +1 more)
Single nucleotide variant
(nonsense)
Hyperekplexia 1
GPathogenic
GLRA1
(M175V +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GConflicting classifications of pathogenicity
GLRA1
(R100fs +1 more)
Deletion
(frameshift variant)
Hereditary hyperekplexia
GPathogenic
GLRA1
(P278T +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(K304E +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GLRA1
(Q294H +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(Y307C +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GPathogenic
GLRA1
(I272N +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(R299Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+3 more
GPathogenic
GLRA1
(R299L +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
GLikely pathogenic
GPHN
(N10Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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